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Items: 2

1.

Decreased body weight

Abnormally low body weight. [from HPO]

MedGen UID:
1806755
Concept ID:
C5574742
Finding
2.

Shwachman syndrome

Shwachman-Diamond syndrome (SDS) is characterized by: exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multilineage cytopenias and susceptibility to myelodysplasia syndrome (MDS) and acute myelogeneous leukemia (AML); and bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common. [from GeneReviews]

MedGen UID:
124418
Concept ID:
C0272170
Disease or Syndrome

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